Linked Data
dbSNP Id:
rs781021007
ExAC:
2:228173921 T / G
gnomAD v2:
2-228173921-T-G
gnomAD v4:
2-227309205-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227309205T>G , CM000664.2:g.227309205T>G | GRCh38 |
| NC_000002.11:g.228173921T>G , CM000664.1:g.228173921T>G | GRCh37 |
| NC_000002.10:g.227882165T>G | NCBI36 |
| NG_011591.1:g.149641T>G , LRG_230:g.149641T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471862.2:n.1900T>G (COL4A3) | ||
| ENST00000682257.1:n.37T>G (COL4A3) | ||
| ENST00000683077.1:n.124T>G (COL4A3) | ||
| ENST00000684413.1:n.2209T>G (COL4A3) | ||
| ENST00000684724.1:n.63T>G (COL4A3) | ||
| ENST00000396578.8:c.4642T>G (COL4A3) MANE Select | ENSP00000379823.3:p.Cys1548Gly | |
| ENST00000469504.2:c.435T>G (COL4A3) | ENSP00000493493.1:p.Asp145Glu | |
| ENST00000643388.1:c.328T>G (COL4A3) | ENSP00000495177.1:p.Cys110Gly | |
| ENST00000396578.7:c.4642T>G (COL4A3) | ENSP00000379823.3:p.Cys1548Gly | |
| ENST00000469504.1:n.150T>G (COL4A3) | ||
| NM_000091.4:c.4642T>G , LRG_230t1:c.4642T>G (COL4A3) | NP_000082.2:p.Cys1548Gly | |
| NR_102371.1:n.48-3550A>C (MFF-DT) | ||
| XM_005246276.2:c.4642T>G (COL4A3) | XP_005246333.1:p.Cys1548Gly | |
| XM_005246277.2:c.4537T>G (COL4A3) | XP_005246334.1:p.Cys1513Gly | |
| XM_011510555.1:c.4642T>G (COL4A3) | XP_011508857.1:p.Cys1548Gly | |
| XM_011510556.1:c.3403T>G (COL4A3) | XP_011508858.1:p.Cys1135Gly | |
| XR_241280.2:n.4602T>G (COL4A3) | ||
| XM_005246277.3:c.4537T>G (COL4A3) | XP_005246334.1:p.Cys1513Gly | |
| XM_011510556.2:c.3403T>G (COL4A3) | XP_011508858.1:p.Cys1135Gly | |
| XR_241280.3:n.4602T>G (COL4A3) | ||
| NM_000091.5:c.4642T>G (COL4A3) MANE Select | NP_000082.2:p.Cys1548Gly |